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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:TEX2-POLG2 (FusionGDB2 ID:89595)

Fusion Gene Summary for TEX2-POLG2

check button Fusion gene summary
Fusion gene informationFusion gene name: TEX2-POLG2
Fusion gene ID: 89595
HgeneTgene
Gene symbol

TEX2

POLG2

Gene ID

55852

11232

Gene nametestis expressed 2DNA polymerase gamma 2, accessory subunit
SynonymsHT008|TMEM96HP55|MTDPS16|MTPOLB|PEOA4|POLB|POLG-BETA|POLGB
Cytomap

17q23.3

17q23.3

Type of geneprotein-codingprotein-coding
Descriptiontestis-expressed protein 2testis expressed sequence 2testis-expressed sequence 2 proteintransmembrane protein 96DNA polymerase subunit gamma-2, mitochondrialDNA polymerase gamma accessory 55 kDa subunitmitochondrial DNA polymerase subunit gamma-2mitochondrial DNA polymerase, accessory subunitp55polymerase (DNA directed), gamma 2, accessory subunitpolymerase (
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000258991, ENST00000583097, 
ENST00000584379, ENST00000581812, 
ENST00000539111, ENST00000582501, 
Fusion gene scores* DoF score13 X 8 X 8=8323 X 3 X 3=27
# samples 153
** MAII scorelog2(15/832*10)=-2.47162102764521
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(3/27*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: TEX2 [Title/Abstract] AND POLG2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointTEX2(62289934)-POLG2(62481985), # samples:2
Anticipated loss of major functional domain due to fusion event.TEX2-POLG2 seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF.
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types
** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
TgenePOLG2

GO:0006261

DNA-dependent DNA replication

10608893|15167897|19837034|19858216|26123486|26446790|28430993

TgenePOLG2

GO:1900264

positive regulation of DNA-directed DNA polymerase activity

10608893|19837034|19858216|26123486


check buttonFusion gene breakpoints across TEX2 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonFusion gene breakpoints across POLG2 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* All genome coordinats were lifted-over on hg19.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4OVTCGA-29-1781-01ATEX2chr17

62289934

-POLG2chr17

62481985

-
ChimerDB4OVTCGA-29-1781-01ATEX2chr17

62289934

-POLG2chr17

62481985

-


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Fusion Gene ORF analysis for TEX2-POLG2

check button Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
Frame-shiftENST00000258991ENST00000539111TEX2chr17

62289934

-POLG2chr17

62481985

-
5CDS-5UTRENST00000258991ENST00000582501TEX2chr17

62289934

-POLG2chr17

62481985

-
Frame-shiftENST00000583097ENST00000539111TEX2chr17

62289934

-POLG2chr17

62481985

-
5CDS-5UTRENST00000583097ENST00000582501TEX2chr17

62289934

-POLG2chr17

62481985

-
Frame-shiftENST00000584379ENST00000539111TEX2chr17

62289934

-POLG2chr17

62481985

-
5CDS-5UTRENST00000584379ENST00000582501TEX2chr17

62289934

-POLG2chr17

62481985

-
intron-3CDSENST00000581812ENST00000539111TEX2chr17

62289934

-POLG2chr17

62481985

-
intron-5UTRENST00000581812ENST00000582501TEX2chr17

62289934

-POLG2chr17

62481985

-

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)
BP loci
(transcript)
Predicted start
(transcript)
Predicted stop
(transcript)
Seq length
(amino acids)

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score

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Fusion Genomic Features for TEX2-POLG2


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.

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Fusion Protein Features for TEX2-POLG2


check button Go to

FGviewer for the breakpoints of :-:

.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
..
FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.

check buttonRetention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at

download page


* Minus value of BPloci means that the break pointn is located before the CDS.
- In-frame and retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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Fusion Gene Sequence for TEX2-POLG2


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.

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Fusion Gene PPI Analysis for TEX2-POLG2


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page.


check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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Related Drugs for TEX2-POLG2


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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Related Diseases for TEX2-POLG2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgenePOLG2C1864668Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 45CTD_human;GENOMICS_ENGLAND;UNIPROT
TgenePOLG2C1834846Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 11ORPHANET